histidinemia
Sign in to saveAlso known as histidinuria, Histidine ammonia-lyase deficiency, Hal Deficiency, Hyperhistidinemia, His Deficiency, Histidase deficiency
Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.
In the Vinony graph
Vinony's link graph records 82 inbound references to histidinemia, and connects out to exon, HAL and hyperprolinemia.
It is catalogued under topics including Amino acid metabolism disorders, Autosomal recessive disorders and Rare diseases.
Vinony links it to 7 Wikipedia language editions.
Research
199 papers- [Histidinemia].Ryoikibetsu shokogun shirizu · 2001
- [Histidinemia].Ryoikibetsu shokogun shirizu · 1998
- [Histidinemia].Pediatriia · 1975
- Histidinemia: a biochemical variant or a disease?Journal of the American College of Nutrition · 1993
- The self-assembly of L-histidine might be the cause of histidinemia.Scientific reports · 2023
via PubMed
Wikidata facts
- Image
- L-histidine-skeletal.png
Show 4 more facts
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_2157
- genetic association
- HAL
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0
~3 min read
Encyclopedic overview
8 sectionsContents
- Presentation
- Molecular mechanism
- Diagnosis
- Treatment
- Prevalence
- See also
- References
- External links
Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.
==Presentation==
Excerpted from Wikipedia’s “histidinemia” article, available under the CC BY-SA 4.0 licence.